FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term aromatic L-amino acid decarboxylase deficiency ID (Ontology) DOID:0090123 (Human Disease)
Definition An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12.
Also Known As "AADC deficiency"
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 Genes
 aromatic L-amino acid decarboxylase deficiency       4
 for disease ribbon | aromatic L-amino acid decarboxylase deficiency       4
 model of | aromatic L-amino acid decarboxylase deficiency       4
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disease of metabolism__
genetic disease________|
                       inherited metabolic disorder
                        |__aromatic L-amino acid decarboxylase deficiency  4 rec.
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Is a inherited metabolic disorder
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Synonyms
  • "AADC deficiency" EXACT
Secondary IDs
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GARD:770
ICD10CM:E70.81
MESH:C537437
MIM:608643
NCI:C142085
ORDO:35708
SNOMEDCT_US_2023_03_01:124600004
UMLS_CUI:C1291564